NHS launches world's first national genetic testing service for children

A national genetic testing service to speed up diagnosis of children and babies in intensive care has been launched as part of the NHS Genomic Medicine Service.

This world-first will see children and infants presenting in intensive care have their whole genome sequenced from their blood and saliva samples by the National Rapid Whole Genome Sequencing Service, based in the South West NHS Genomic Laboratory Hub in Devon. There, scientists will search for gene coding errors in the genome and compare them to a database of over 6000 genetic conditions. The service promises to return results in fewer than seven days, more quickly than previous tests, which could take weeks to come back. This could speed up and help identify correct treatment for children with genetic conditions, and improve outcomes.

'When a child comes to intensive care timing is everything, so finding the right diagnosis and treatment as quickly as possible is absolutely vital, and I am delighted that the pioneering work of the NHS' Genomic Medicine Service is transforming the way we diagnose and treat patients in England' said Amanda Pritchard, the NHS chief executive, announcing the plans at the inaugural Genomics Healthcare Summit in London on 12 October 2022.

The whole genome sequencing service is part of the NHS' genomic strategy, a five-year plan aiming to accelerate the use of genomic medicine in the NHS, with an ultimate aim to be the first health service to provide 'whole genome sequencing as part of routine care'. Already whole genome sequencing is offered for some rare diseases, specific cancers, and the strategy aims to increase the number of patients benefitting from this in coming years by sequencing half a million genomes of NHS patients by 2023/24.

'The NHS is recognised worldwide as a world leader in genomics, and this new service proves just that – it also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients – boosting the life chances of thousands across the country', Pritchard added at the Summit.

Earlier this year a test for a genetic variant which makes children and infants susceptible to antibiotic gentamicin-induced hearing loss, was introduced at paediatric intensive care units in the North West following a successful trial (see BioNews 1140).

'The rapid whole genome testing service will transform how rare genetic conditions are diagnosed.' said Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service.

'We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering – and potentially life-saving – for so many seriously unwell babies and children.'